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"Copy Number Variant Detection Without a Panel of Normals Using Anchored Multiplex PCR and Next-Generation Sequencing"

Copy number variations (CNVs) are genomic aberrations in which the number of copies of a region of the genome differs from the expected number. Errors in DNA replication, repair, recombination, and other processes can cause CNVs.

CNVs may be a cause of disease, a symptom, or both. Copy gains or losses affecting oncogenes or tumor suppressor genes are one mechanism by which cancers may arise, proliferate, or persist. CNVs may be targetable by, or grant resistance to, certain therapies. CNV signatures may indicate chromosomal instability resulting from homologous recombination deficiency.

This scientific poster from IDT introduces a new CNV method designed to work with NGS panels that relies only on data from the sample of interest to determine copy number and breakpoints instead of using matched normal tissue or a panel of normal samples.

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